Defects of intrinsic and innate immunity
Gene: CASP4
Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.
Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: LiteratureCreated: 26 Sep 2023, 6:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to meliodiosis
Publications
Gene: casp4 has been classified as Red List (Low Evidence).
Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis
Gene: casp4 has been classified as Red List (Low Evidence).
gene: CASP4 was added gene: CASP4 was added to Defects of innate immunity. Sources: Literature Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP4 were set to PMID: 37647624 Phenotypes for gene: CASP4 were set to Susceptibility to meliodiosis Review for gene: CASP4 was set to RED